遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Insertion	NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs)	BRCA2	Pathogenic	13	32915331	32915332	T	TA	criteria provided, single submitter	ClinGen:CA658683814
Duplication	NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs)	BRCA2	Pathogenic	13	32937387	32937388	C	CAA	criteria provided, single submitter	ClinGen:CA658683809
Deletion	NM_000059.4(BRCA2):c.8548del (p.Glu2850fs)	BRCA2	Pathogenic	13	32945152	32945152	AG	A	criteria provided, single submitter	ClinGen:CA658683836
Duplication	NM_007294.4(BRCA1):c.5194-10_5236dup	BRCA1	Pathogenic	17	41209109	41209110	T	TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA	criteria provided, single submitter	ClinGen:CA658684094
Deletion	NM_007294.4(BRCA1):c.4818del (p.Val1607fs)	BRCA1	Pathogenic	17	41223113	41223113	CT	C	criteria provided, single submitter	ClinGen:CA658684115
single nucleotide variant	NM_007294.4(BRCA1):c.3535A>T (p.Lys1179Ter)	BRCA1	Pathogenic	17	41244013	41244013	T	A	criteria provided, single submitter	ClinGen:CA10594898
Deletion	NM_007294.4(BRCA1):c.2511del (p.Asn838fs)	BRCA1	Pathogenic	17	41245037	41245037	TA	T	criteria provided, single submitter	ClinGen:CA658684086
Deletion	NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs)	BRCA1	Pathogenic	17	41246253	41246256	CAGTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684119
Duplication	NM_007294.4(BRCA1):c.849dup (p.Gln284fs)	BRCA1	Pathogenic	17	41246698	41246699	G	GT	criteria provided, single submitter	ClinGen:CA658684121
single nucleotide variant	NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)	BRCA1	Pathogenic	17	41244839	41244839	A	T	criteria provided, single submitter	ClinGen:CA10596579,OMIM:113705.0042